Issues

Summary: Newer molecular technologies to precisely and efficiently manipulate the mammalian genome are enabling the production of more scientifically valuable animal models.

Summary: This Review compares two key types of amyotrophic lateral sclerosis (ALS) mouse models: transgenic mice and those that express genes at physiological levels. We explore the advantages of each type for studying pathomechanisms, to understand what they can teach us about ALS.

Summary: Using the vps13Δ strain, a yeast model of the neurodegenerative disorder chorea-acanthocytosis, we found that its defects can be overcome by reduction of calcineurin activity and/or type-I-myosin activation.

Summary: Targeted knockout of Fbn1 in the ciliary epithelium of the mouse eye undermines the structural and biomechanical integrity of the ciliary zonule and results in an ectopia lentis phenotype.

Summary: A model of islet inflammation in zebrafish exhibits functional β-cell silencing and a lack of glucose responsiveness. A natural compound that rescues the glucose defect in zebrafish can protect human islets from inflammation.

Summary: Here, we show that an exonic splicing enhancer variant in DUOX2 (c.1226 A>G) causes aberrant splicing of DUOX2 transcripts, resulting in lower H₂O₂ production, to cause severe congenital hypothyroidism in Bama pigs.

Editor's choice: The HECTD1 ubiquitin ligase is a novel modulator of retinoic acid signaling during aortic arch development and provides a model for complex interactions underlying variations in aortic arch development.

Summary: This study reveals that the MITF-PEDF pathway plays a critical role in RPE homeostasis and that simple eye drops of a PEDF 17-mer peptide can partially prevent Mitf deficiency-associated retinal degeneration in mice.

Summary: In spinocerebellar ataxia type 7, SUMOylation contributes to the clearance of mutant ATXN7. SUMO2-modified ATXN7 interacts with the SUMO-dependent ubiquitin ligase RNF4, which polyubiquitinates ATXN7, promoting its proteasomal degradation.